Megabase deletions of gene deserts result in viable mice

Nature. 2004 Oct 21;431(7011):988-93. doi: 10.1038/nature03022.

Abstract

The functional importance of the roughly 98% of mammalian genomes not corresponding to protein coding sequences remains largely undetermined. Here we show that some large-scale deletions of the non-coding DNA referred to as gene deserts can be well tolerated by an organism. We deleted two large non-coding intervals, 1,511 kilobases and 845 kilobases in length, from the mouse genome. Viable mice homozygous for the deletions were generated and were indistinguishable from wild-type littermates with regard to morphology, reproductive fitness, growth, longevity and a variety of parameters assaying general homeostasis. Further detailed analysis of the expression of multiple genes bracketing the deletions revealed only minor expression differences in homozygous deletion and wild-type mice. Together, the two deleted segments harbour 1,243 non-coding sequences conserved between humans and rodents (more than 100 base pairs, 70% identity). Some of the deleted sequences might encode for functions unidentified in our screen; nonetheless, these studies further support the existence of potentially 'disposable DNA' in the genomes of mammals.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Chromosome Deletion*
  • Chromosomes, Mammalian / genetics
  • Conserved Sequence / genetics
  • Female
  • Gene Expression Profiling
  • Genes, Essential / genetics
  • Genome*
  • Homozygote
  • Humans
  • Longevity / genetics
  • Male
  • Mice
  • Mice, Mutant Strains
  • Mice, Transgenic
  • Phenotype
  • Reproduction / genetics
  • Sequence Deletion / genetics*